Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1305542291
rs1305542291
0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
0.800 0
dbSNP: rs10851889
rs10851889
1.000 0.040 15 76730995 intron variant C/T snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11072617
rs11072617
1.000 0.040 15 76704160 intron variant T/A snv 9.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11072625
rs11072625
1.000 0.040 15 76792643 intron variant G/A snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1116535
rs1116535
1.000 0.040 15 76717173 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11632765
rs11632765
1.000 0.040 15 76681920 intron variant A/T snv 0.34
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11633869
rs11633869
1.000 0.040 15 76840981 intron variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12440511
rs12440511
1.000 0.040 15 76700794 intron variant A/G snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12904417
rs12904417
1.000 0.040 15 76671811 intron variant G/A snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12912475
rs12912475
1.000 0.040 15 76755574 intron variant T/C snv 3.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs140802894
rs140802894
15 76607515 intron variant G/T snv 3.2E-02
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs140802894
rs140802894
15 76607515 intron variant G/T snv 3.2E-02
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs1555447569
rs1555447569
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
0.700 1.000 1 2017 2017
dbSNP: rs1555447569
rs1555447569
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1555447569
rs1555447569
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
Attention deficit hyperactivity disorder
Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1555558169
rs1555558169
0.925 0.080 15 76728739 splice acceptor variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1567499068
rs1567499068
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy
0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
0.882 0.160 15 76574190 frameshift variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 1 2019 2019
dbSNP: rs166906
rs166906
15 76509834 intron variant C/T snv 0.12
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs16968467
rs16968467
1.000 0.040 15 76765523 intron variant G/C snv 6.3E-02 6.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17464903
rs17464903
1.000 0.040 15 76903145 intron variant A/G snv 0.38
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017